DCTN1 mutations in Perry syndrome

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Farrer M. J., Hulihan M. M., Kachergus J. M., Dachsel J. C., Stoessl A. J., Grantier L. L., ...Daha Fazla

NATURE GENETICS, cilt.41, sa.2, ss.163-165, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 41 Sayı: 2
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1038/ng.293
  • Dergi Adı: NATURE GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.163-165
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Perry syndrome consists of early-onset parkinsonism, depression, severe weight loss and hypoventilation, with brain pathology characterized by TDP-43 immunostaining. We carried out genome-wide linkage analysis and identified five disease-segregating mutations affecting the CAP-Gly domain of dynactin (encoded by DCTN1) in eight families with Perry syndrome; these mutations diminish microtubule binding and lead to intracytoplasmic inclusions. Our findings show that DCTN1 mutations, previously associated with motor neuron disease, can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders.